Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

Clinical, radiographic and biochemical characteristics of adult hypophosphatasia Summary In this study, we report on clinical, radiographic and symptoms. A history of fracture was present in 15 patients biochemical characteristics of 38 patients with adult (39%). Twenty-one patients (55%) complained about recur- hypophosphatasia. High-resolution peripheral quantitative ring headaches, 23 patients (61%) had recurring muscle pain, computed tomography showed alterations of bone microstruc- 4 patients (11%) suffered from severe muscle weakness and ture in a subgroup of 14 patients. Pyridoxal-5-phosphate 18 patients (47%) showed dental abnormalities. Z-scores levels correlated with the occurrence of fractures and the num- assessed by DXA were only slightly reduced in most adult ber of symptoms. HPP patients. HR-pQCT of 14 patients showed microstructur- Introduction Hypophosphatasia (HPP) is a rare disorder with al changes of trabecular and cortical bone compared to refer- a wide range of clinical manifestations. A reduced enzymatic ence values of healthy subjects. The occurrence of fractures activity of alkaline phosphatase (ALP) is the key marker of the and multiple symptoms (>2 typical HPP symptoms) were as- disease, causing an accumulation of ALP substrates such as sociated with significantly elevated levels of PLP. pyridoxal-5-phosphate (PLP). The purpose of this retrospec- Conclusion Adult HPP presents with a wide range of clinical tive Osteoporosis International Springer Journals

Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

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Springer London
Copyright © 2017 by International Osteoporosis Foundation and National Osteoporosis Foundation
Medicine & Public Health; Orthopedics; Endocrinology; Rheumatology
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